LIMS2 gene related symptoms and diseases
All the information presented here about the LIMS2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to LIMS2 gene
Symptoms // Phenotype | % Cases |
---|---|
Muscle weakness | Very Common - Between 80% and 100% cases |
Tetraparesis | Very Common - Between 80% and 100% cases |
Reduced systolic function | Very Common - Between 80% and 100% cases |
Increased connective tissue | Very Common - Between 80% and 100% cases |
Progressive proximal muscle weakness | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with LIMS2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Calf muscle hypertrophy
- Limb-girdle muscular dystrophy
- Progressive muscle weakness
- Macroglossia
- Skeletal muscle atrophy
- Dilated cardiomyopathy
- Muscular dystrophy
- Proximal muscle weakness
And 4 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to LIMS2 gene
Here you will find a list of rare diseases related to the LIMS2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2W
Alternate names
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2W Is also known as lgmd2w
Description
Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.
Most common symptoms of AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2W
- Muscle weakness
- Skeletal muscle atrophy
- Talipes equinovarus
- Cardiomyopathy
- Elevated serum creatine phosphokinase
More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2W
Search interest in LIMS2
Potential gene panels for LIMS2 gene
Neuromuscular Disorders Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2
More info about this panelNeuromuscular Disorders Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Neuromuscular Disorders Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 STIM1 SYT2
More info about this panelLimb-Girdle Muscular Dystrophy Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Limb-Girdle Muscular Dystrophy Sequencing Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelLimb-Girdle Muscular Dystrophy Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelLimb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel Panel
By PreventionGenetics PreventionGenetics Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN VCP CAPN3 DNAJB6
More info about this panelLimb Girdle Muscular Dystrophy Type 2W (LGMD2W) via LIMS2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the LIMS2 gene.
More info about this panelComprehensive Neuromuscular Sequencing Panel Panel
By PreventionGenetics PreventionGenetics Comprehensive Neuromuscular Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 SQSTM1 STIM1
More info about this panelLimb girdle muscular dystrophy Comprehensive panel Panel
By Connective Tissue Gene Tests Limb girdle muscular dystrophy Comprehensive panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelLimb girdle muscular dystrophy Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Limb girdle muscular dystrophy Deletion / Duplication panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelLimb girdle muscular dystrophy NGS panel Panel
By Connective Tissue Gene Tests Limb girdle muscular dystrophy NGS panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelMuscle Weakness (Myopathy, Muscular Dystrophy) Panel
By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5
More info about this panelMuscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel
By MGZ Medical Genetics Center Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) that also includes the following genes: RYR1 SCN4A SGCA SGCB SGCD SGCG SLC22A5 STIM1 TCAP TIA1
More info about this panelAllNeuro panel Panel
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panelLIMS2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LIMS2 gene.
More info about this panelLGMD and Congenital Muscular Dystrophy Panel Panel
By Blueprint Genetics LGMD and Congenital Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelComprehensive Muscular Dystrophy / Myopathy Panel Panel
By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like DIABLO GRIN1 CC2D2A USF1 ADGRV1 CDH3 NEFH